Incidental Mutation 'IGL03065:Heph'
ID 409658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Heph
Ensembl Gene ENSMUSG00000031209
Gene Name hephaestin
Synonyms sex linked anemia, sla, C130006F04Rik, Cpl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03065
Quality Score
Status
Chromosome X
Chromosomal Location 95499042-95618091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95571173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 669 (I669N)
Ref Sequence ENSEMBL: ENSMUSP00000078301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033553] [ENSMUST00000079322] [ENSMUST00000113838]
AlphaFold Q9Z0Z4
Predicted Effect probably benign
Transcript: ENSMUST00000033553
AA Change: I711N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033553
Gene: ENSMUSG00000031209
AA Change: I711N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 95 209 6.1e-10 PFAM
Blast:FA58C 252 372 4e-7 BLAST
Pfam:Cu-oxidase_3 450 562 2e-8 PFAM
Pfam:Cu-oxidase_3 806 905 1e-7 PFAM
Pfam:Cu-oxidase_2 942 1065 7.5e-17 PFAM
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1134 1143 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000079322
AA Change: I669N

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000078301
Gene: ENSMUSG00000031209
AA Change: I669N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 95 209 2.6e-10 PFAM
Blast:FA58C 252 372 3e-7 BLAST
Pfam:Cu-oxidase_3 439 509 6.4e-7 PFAM
internal_repeat_1 688 798 9.28e-22 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000113838
AA Change: I711N

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000109469
Gene: ENSMUSG00000031209
AA Change: I711N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Cu-oxidase_3 96 209 7.5e-10 PFAM
Blast:FA58C 252 372 4e-7 BLAST
Pfam:Cu-oxidase_3 439 562 1.8e-8 PFAM
Pfam:Cu-oxidase_3 806 905 8.2e-8 PFAM
Pfam:Cu-oxidase_2 941 1065 6.3e-16 PFAM
transmembrane domain 1109 1131 N/A INTRINSIC
low complexity region 1134 1143 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the multicopper oxidase protein family. The encoded protein is involved in the transport of dietary iron from epithelial cells of the intestinal lumen into the circulatory system, and may be involved in copper transport and homeostasis. In mouse, defects in this gene can lead to severe microcytic anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Hemizygous male and homozygous female mutants are small and pale at birth, exhibit a hypochromic anemia which tends to disappear with age. Mutants have impaired iron transport in the placenta and in the gut. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl1 A G 8: 84,665,143 (GRCm39) M1322V possibly damaging Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Afg2a T C 3: 37,486,328 (GRCm39) V350A possibly damaging Het
Als2 T C 1: 59,255,031 (GRCm39) S109G probably benign Het
Bpifa1 T A 2: 153,989,562 (GRCm39) N250K probably damaging Het
Capn9 A C 8: 125,332,298 (GRCm39) Y423S probably damaging Het
Cd200r1 T G 16: 44,614,645 (GRCm39) V308G probably benign Het
Cic T C 7: 24,985,246 (GRCm39) probably benign Het
Col5a1 T A 2: 27,922,757 (GRCm39) I275N possibly damaging Het
Col6a4 C A 9: 105,918,363 (GRCm39) probably benign Het
Cpeb1 T C 7: 81,086,038 (GRCm39) R35G probably benign Het
Cul1 A G 6: 47,472,015 (GRCm39) Y52C probably damaging Het
Dctn1 T C 6: 83,169,475 (GRCm39) F496L probably damaging Het
Dock11 G T X: 35,310,699 (GRCm39) probably benign Het
Eaf2 C T 16: 36,648,484 (GRCm39) R12H probably benign Het
Gcc1 T A 6: 28,418,401 (GRCm39) Q644L possibly damaging Het
Gm44865 C T 7: 108,165,004 (GRCm39) probably benign Het
Golgb1 C T 16: 36,733,228 (GRCm39) S825L probably benign Het
Gstp3 C T 19: 4,108,730 (GRCm39) probably null Het
Il12rb1 A T 8: 71,273,202 (GRCm39) Y635F possibly damaging Het
Ing3 G A 6: 21,971,221 (GRCm39) A331T probably benign Het
Ipo8 T A 6: 148,686,205 (GRCm39) I762F probably benign Het
Itpr3 G A 17: 27,310,907 (GRCm39) R510Q probably damaging Het
Kif16b A G 2: 142,461,833 (GRCm39) Y1273H probably damaging Het
Map3k14 T C 11: 103,115,927 (GRCm39) E784G probably damaging Het
Mpdz A T 4: 81,210,802 (GRCm39) N1694K probably damaging Het
Myh13 T C 11: 67,235,679 (GRCm39) F648S probably damaging Het
Myh4 A G 11: 67,149,982 (GRCm39) H1847R probably benign Het
Ncoa7 T A 10: 30,523,993 (GRCm39) D840V probably damaging Het
Nxpe2 T A 9: 48,230,992 (GRCm39) N459I possibly damaging Het
Or4d10c C A 19: 12,065,975 (GRCm39) L60F possibly damaging Het
Or4k2 C A 14: 50,424,465 (GRCm39) D70Y probably damaging Het
Or4k47 T C 2: 111,451,535 (GRCm39) K295E probably damaging Het
Ovgp1 T C 3: 105,893,682 (GRCm39) F485S probably benign Het
Parp4 G T 14: 56,875,326 (GRCm39) A1182S probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pla2g15 G A 8: 106,886,851 (GRCm39) R114H probably benign Het
Plppr3 T A 10: 79,701,880 (GRCm39) T321S probably benign Het
Rnf113a1 A G X: 36,455,748 (GRCm39) D235G probably benign Het
Rsrp1 A G 4: 134,651,700 (GRCm39) T155A possibly damaging Het
Simc1 G T 13: 54,685,025 (GRCm39) C87F probably damaging Het
Slco1a5 A G 6: 142,194,569 (GRCm39) probably benign Het
Slco1a8 C A 6: 141,938,228 (GRCm39) L230F probably damaging Het
Smyd5 A G 6: 85,419,146 (GRCm39) D276G possibly damaging Het
Tmem132c A G 5: 127,640,688 (GRCm39) Y953C probably damaging Het
Trank1 T A 9: 111,219,361 (GRCm39) S2033T possibly damaging Het
Trim69 A G 2: 122,009,115 (GRCm39) T392A probably damaging Het
Tsks T C 7: 44,592,724 (GRCm39) V6A probably damaging Het
Yjefn3 A G 8: 70,342,206 (GRCm39) probably benign Het
Zfp263 T G 16: 3,564,344 (GRCm39) D211E probably benign Het
Zfp994 A T 17: 22,421,661 (GRCm39) F51L probably damaging Het
Znfx1 A T 2: 166,897,685 (GRCm39) M413K probably benign Het
Other mutations in Heph
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Heph APN X 95,571,284 (GRCm39) missense probably damaging 1.00
IGL01515:Heph APN X 95,601,706 (GRCm39) missense probably damaging 1.00
IGL02437:Heph APN X 95,516,633 (GRCm39) missense probably benign 0.09
R0555:Heph UTSW X 95,601,690 (GRCm39) missense probably damaging 1.00
R1864:Heph UTSW X 95,573,092 (GRCm39) missense probably damaging 1.00
R1871:Heph UTSW X 95,542,690 (GRCm39) missense probably benign 0.32
R4117:Heph UTSW X 95,544,221 (GRCm39) missense probably benign 0.00
Z1088:Heph UTSW X 95,509,637 (GRCm39) missense probably damaging 1.00
Z1176:Heph UTSW X 95,598,528 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02